Variant report

Variant	rs74044078
Chromosome Location	chr13:40058872-40058873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11618810	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12385888	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28609347	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603547	0.86[AMR][1000 genomes]
rs9603548	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40043600-40068200	Weak transcription	Lung	lung
2	chr13:40051400-40064400	Weak transcription	HSMMtube	muscle
3	chr13:40054200-40060600	Weak transcription	Aorta	Aorta
4	chr13:40054400-40060800	Weak transcription	Fetal Lung	lung
5	chr13:40055600-40060000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:40056800-40059000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:40056800-40060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:40057000-40070400	Weak transcription	Right Ventricle	heart
9	chr13:40057200-40059200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:40057400-40059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:40057400-40059000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:40057400-40059000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:40057400-40059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:40057400-40059000	Enhancers	HMEC	breast
15	chr13:40057400-40059200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:40057400-40059400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:40057400-40059600	Enhancers	NHEK	skin
18	chr13:40057400-40060800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr13:40057400-40061400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:40057600-40059000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr13:40057600-40059000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:40057600-40059400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:40057600-40060800	Enhancers	HSMM	muscle
24	chr13:40057600-40061600	Enhancers	Osteobl	bone
25	chr13:40057800-40059000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr13:40057800-40059000	Enhancers	Brain Anterior Caudate	brain
27	chr13:40057800-40059800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:40057800-40059800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:40057800-40060200	Enhancers	NH-A	brain
30	chr13:40057800-40060200	Enhancers	NHDF-Ad	bronchial
31	chr13:40057800-40061200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:40057800-40063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:40058000-40059000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:40058000-40059200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:40058400-40060400	Enhancers	HUVEC	blood vessel
36	chr13:40058400-40068200	Weak transcription	Right Atrium	heart
37	chr13:40058600-40059600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr13:40058600-40061000	Weak transcription	Adipose Nuclei	Adipose
39	chr13:40058600-40063400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:40058600-40070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr13:40058800-40059000	Enhancers	Left Ventricle	heart
42	chr13:40058800-40059000	Enhancers	Ovary	ovary
43	chr13:40058800-40060000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr13:40058800-40060000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:40058800-40060000	Weak transcription	Fetal Heart	heart
46	chr13:40058800-40060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:40058800-40060400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:40058800-40063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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